Below are Medical terms in a style that is understandable to non-medical persons. They are very general  explanations to give you a starting place for understanding very technical information.

If you see any errors in this section, please bring it to our attention promptly as we do not want to offer incorrect information. Also, if you see other terms anywhere in our website, which are difficult to understand, please contact us so that we may include them in this glossary:

• Acidosis - refers to the spilling of ketones associated with a LOW blood sugar level (unlike the severe ketoacidosis seen in uncontrolled diabetes, which is associated with a high blood sugar level). The presence of ketones in a child’s urine means that the child’s cells are getting low on sugar (the child’s glycogen storage is low) and the body is now switching to burn body fat (or muscle, if the body has little fat) as fuel. Ketone spilling is the precursor to hypoglycemia.

• ACTH (Adrenocorticotropic hormone) - a hormone which is produced by the pituitary gland. It stimulates adrenal glands to secrete hormones such as cortisone and cortisol.

• Acute renal failure - a condition in which the kidneys suddenly stop working. In most cases, kidneys can recover from almost complete loss of function.

• Adenohypophysis - is the anterior lobe of the pituitary.

• Adolesence - is your childs' teenage years when the body is developing into an adult (see puberty).

• Adrenal cortex - is the outer layer of the adrenal gland and secretes numerous hormones including cortisol. cortisone, testosterone, estrogen, androgen, aldosterone and progesterone.

• Adrenal gland - a gland (there are 2 one above each kideny). Each is responsible for producing adrenaline hormones involved in protecting the body during times of injury/stress (see CAH Brochure #1 section).

• Age appropriate - activities, materials, curriculum, and environment consistent with the chronological age (actual years) of the child. For example, a child with a growth disorder often appears in size to be younger than he or she really is in years. Therefore, it is important to treat that child by their real age instead of how old they appear.

• Agenesis - is the underdevelopment of a part of the body.

• Albuminuria - more than normal amounts of a protein called albumin in the urine. Albuminuria may be a sign of kidney disease.

• Aldosterone - is a hormone which is produced by the adrenal glands. It controls the balance of water and electrolytes (ions such as potassium and sodium) in the body. Aldosterone encourages the kidney to excrete potassium into the urine and to retain sodium, thereby retaining water.

• Ambiguous genitalia - the outer appearance of the genitals do not look either male or female (see CAH Brochure # 3 section).

• Analog – a chemical compound that is structurally similar to another but differs slightly in composition.

• Androgens – a group of hormones that cause the development of male sexual characteristics. The testes and adrenal glands in males make these hormones. Small amounts are made in the ovaries and in the adrenal glands in females.

• Anomaly – a difference from what is normally expected

• Anti-diuretic hormone - hormone secreted by the posterior pituitary gland and the hypothalamus; it affects blood pressure

• Anuria - a condition in which the person stops making urine.

• Aplasia- is the failure of an organ or tissue to develop normally.

• Arched palate - high and narrow roof of mouth

• Arginine - is a type of chemical endocrinologists may use to trick the pituitary into secreting growth hormone out of its normal cycle in the body. It is a safe chemical which has been used for a long time.

• Arteriovenous (AV) fistula (commonly called fistula) - surgical connection of an artery directly to a vein, usually in the forearm, created in patients who will need hemodialysis (see dialysis). The AV fistula causes the vein to grow thicker, allowing the repeated needle insertions required for hemodylasis.

• Asymmetry - occurs when one limb or side of the body is smaller than the other side/limb. With RSS, the smaller side is the abnormal side, which is called hemihypotrophy.

• Biosynthetic - Bio means life or living. Synthetic or synthesis means putting together two or more parts to form something else. In the living body, this is happening in thousands of different ways. These biosynthetic happenings keep our bodies constantly performing. For example, when we eat foods containing glucose (sugar) our body needs to store some of it for use later when the body needs energy. Other cells combine with this sugar to change it to glycogen, which can be then stored in the liver. This is one case of a biosynthetic process.

• Vlood lipid - amount of fat in the blood. This includes cholesterol.

• Bone age - typically a child's bone age is close to his/her chronological age. For example, if a child is 8 years old, his/her bone age will be very close to 8 years. See bone age x-ray below for more details.

• Bone age x-ray – x-ray of the left hand and wrist to figure out how old the bones think the body is (technically called skeletal maturity). The bones grow from the end of the bones in an area called growth plates. They are completely open at birth and slowly grow to a closed position at the end of puberty. The more closed they are, the older the child’s body thinks it is. The x-ray is compared with standards for boys and girls of different ages.

• Bone density - amount of bone tissue in a sample of bone.

• Brain function - how the brain works.

• BUN - blood urea nitrogen: waste product in the blood that comes from the breakdown of food protein. The kidneys filter blood to remove urea. As kidney function decreases, the BUN level increases.

• Centile - also refered to as a percentile. This is a method of measurements. In the case of children's growth, the experts divided the average growth rates of children by 100. The tallest children are in the higher percentiles. The smaller children are in the lower percentiles.

• Chronic renal failure - slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys.

• Chronological age – how old someone is expressed in years and months.

• Clonidine - like argenine it is a stimulant for the pituitary gland. It too has been used safely for many years.

• Cm - abbreviation for centimeter. This is a unit of metric measurement. One inch equals 2.54 cm.

• Coarsening of facial features - several conditions may cause too much growth hormone in the body. This additional growth hormone causes the jaw, nose, and forehead to grow. The resulting change in the look of the face is called coarsening. The person’s tongue gets larger and the teeth spread out to form spaces between them. When this happens the person may suffer with headaches. When there is too much growth hormone other important areas of the body are affected, as well. If this is not treated the person may die early because this extra growth hormone is also affecting important parts of the body such as the heart, lungs, and brain.

• Congenital - means existing "at birth" , more commonly “born with something” (see CAH Brochure #1 section).

• Congenital lymphedema - increased accumulation of lymph fluid in lymph channels at birth

• Continuous ambulatory peritoneal dialysis (CAPD) - the most common type of peritoneal dialysis. It needs no machine. With CAPD, the blood is always being cleaned. The dialysate passes from a plastic bag through the catheter and into the abdomen. The dialysate stays in the abdomen with the catheter sealed. After several hours, the person using CAPD drains the solution back into a disposable bag. Then the person refills the abdomen with fresh solution through the same catheter, to begin the cleaning process again.

• Continuous cyclic peritoneal dialysis (CCPD) - a form of peritoneal dialysis that uses a machine. This machine automatically fills and drains the dialysate from the abdomen. A typical CCPD schedule involves three to five exchanges during the night while the person sleeps. During the day, the person using CCPD performs one exchange with a dwell time that lasts the entire day.

• Cortisol - a steroid made by the adrenal cortex. Protects the body from stress along with maintaining blood sugar, body fluids, and electrolytes (see CAH Brochure #1 section).

• Creatinine - a waste product from meat protein in the diet and from the muscles of the body. Creatinine is removed from blood by the kidneys; as kidney disease progresses, the level of creatinine in the blood increases.

• Cubitus valgus - angling of the elbow joints such that a full forward extension of the arms the angle of the lower to the upper arm is less than 180 degrees

• Cehydration - a lower than “normal” level of essential body fluids (i.e. water, see CAH Brochure # 3 section).

• Developmental disabilities - a mental or physical disability that appears in infancy or childhood and involves a failure or delay in progressing through the normal developmental stages of childhood.

• Diabetes Insipidus - a disorder of the pituitary gland characterized by intense thirst and by the excretion of large amounts of urine; caused by a deficiency of anti-diuretic hormone

• Dialysis - the process of cleaning wastes from the blood artificially. This job is normally done by the kidneys. If the kidneys fail, the blood must be cleaned artificially with special equipment. The two major forms of dialysis are hemodialysis and peritoneal dialysis.

• Dysplasia - abnormal development or growth of tissues, organs, or cells

  edema - swelling caused by too much fluid in the body.

• Electrolytes - chemicals in the body fluids that result from the breakdown of salts, including sodium, potassium, magnesium, and chloride. The kidneys control the amount of electrolytes in the body. When the kidneys fail, electrolytes get out of balance, causing potentially serious health problems. Dialysis can correct this problem.

• Endocrine - secreting internally; the secretion of an endocrine gland; a hormone.

  endocrine glands - organs that secrete hormones directly into the blood stream. This is different from duct glands, like saliva glands, that secrete via ducts.

• End-stage renal disease (ESRD) - total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys.

• Erythropoietin (EPO) - a hormone made by the kidneys to help form red blood cells. Lack of this hormone may lead to anemia.

• Estrogen - a group of hormones that cause the development of female sexual characteristics and control the reproductive cycle in women. They are made by the ovaries in females and small amounts are made in fat tissue in males. This substance is mainly needed for normal growth and development of a woman’s sex organs. Without it, women could not have children. Sometimes it is necessary for a woman to take estrogen (kind of like taking a vitamin) if her body does not make enough to do the job. Also, if a woman has too little estrogen she may get a disease called osteoporosis. This disease can cause her bones to break easily. Estrogen is needed for new bone to grow but too much of it can cause a child's growth plate (the place at the end of the long bones where bone growth takes place) to close before it should. If this happens, the child will end up being shorter than they would have been.

• Estrogen synthesis - the making of estrogen (a sex hormone made in the body). This is done by the body or it can be made by a company that makes drugs.

• Fertility – capable of producing offspring

• Fetus – a developing baby (before birth)

• Fibroblast - fibro means fiber or thin threadlike structure and blast means immature. Fibroblasts are beginning cells that make and release collagen (a substance necessary to form skin, bones, tendons, and ligaments) which forms various tissues that supports the body.

• Fibrous - something that is made up of thin fibers or threadlike structures.

• Final adult height – the final height attained at the end of puberty. Height is determined by bone growth. Final Adult Height is achieved when a child’s bone growth plates have fused. In females, the hormone estrogen causes fusion of the growth plates, so growth stops when estrogen reaches adult levels, about 2-3 years after the first menstrual period. For males, the hormone androgen, at first stimulates bone growth but eventually also causes fusion of the growth plates.

• Florinef - a medication to keep potassium levels in the normal range (see CAH Brochure # 6 section).

• Genes - segments of DNA (genetic material) found on a chromosome that gives you hereditary characteristics (see CAH Brochure #1 section).

• Genital – pertaining to the reproductive organs

• Genitals – reproductive organs, often refers to the external (outside) reproductive organs

• Genotype - the status of a specific gene at a specific location on a specific chromosome. An abnormal genotype means that there has been a problem, a specific “alteration” (which could be a gene deletion, duplication, insertion, substitution or an imprinting error) within the code of that specific gene at that specific location. Genotypes are responsible for phenotypes. Hence, your genetic code describes, among other things, your physical characteristics.

• Gestation - a term used for the medical time more commonly referred to as pregnancy (see CAH Brochure # 5 section).

• Gestational age - refers to the “age” of the fetus from conception to birth. The duration of pregnancy ideally is 38-42 weeks. A baby born at 40 weeks would have a “gestational age” of 40 weeks. If a fetus is delivered early, let’s say at 34 weeks, the baby’s gestational age (GA) is then 34 weeks. Growth charts need to be adjusted for gestational age because you can not expect an infant who was born 8 weeks early to be the same weight at 6 months of age as an infant who was born full-term. A baby whose GA is 40 weeks and weights 4 pounds would be considered small-for-gestational-age; but a baby whose GA was only 33 weeks and yet weighed 4 pounds would NOT be considered underweight for his gestational age.

• Glomerulosclerosis - Scarring of the glomeruli resulting from diabetes mellitus (diabetic glomerulosclerosis) or from deposits in parts of the glomerulus (focal segmental glomerulosclerosis). The most common signs of glomerulosclerosis are proteinuria and kidney failure.

• Growth chart - a simple grid (chart) which allows you to determine the exact height or weight a child is (at a specific age). It is used to see where a child is in comparison to other children of the same age and sex, and to determine the rate of growth for that child.

• Growth hormone therapy - utilizing a synthetic version of the bodies natural hormone responsible for linear growth. The goal of GH therapy for a child with pediatric deficiency is to help the child reach his or her normal/natural growth potential.

• Growth rate/pattern - growth increase for a set period of time.

• Hemodialysis - the use of a machine to clean wastes from the blood after the kidneys have failed. The blood travels through tubes to a dialyzer, which removes wastes and extra fluid. The cleaned blood then flows through another set of tubes back into the body.

• Hormone - a substance that is made in one part of the body and travels through the blood to affect another part of the body. Hormones affect practically every area of the body. For example, certain hormones make the heart beat faster, change your mood, or tell your body to grow.

• Hyperplasia - overdevelopment or activity / or an over abundance of normal cells in a tissue (see CAH Brochure # 2 section).

• Hypertension - high blood pressure, which can be caused either by too much fluid in the blood vessels or by narrowing of the blood vessels.

• Hypertonia - is an increase in the tightness of muscles.

• Hypoglycemia - refers to “low blood sugar.” Hypoglycemia is medically defined as a blood sugar level below a level of approximately 70

• Hypoplasia - underdevelopment of an organ because of a decrease in the number of cells

• Hypothalamus - the part of the brain that lies below the thalamus, which is involved in the regulation of body temperature, hunger and thirst, certain metabolic processes, and other autonomic activities

• Hypothyroidism - a condition in which the thyroid gland is under active and produces less than normal levels of the thyroid hormones.

• Idiopathic - means, no identifiable cause. This term is used when there is no clear cut answer for what caused a problem.

• Immune system - an integrated system of organs, tissues, cells, which together help to fight off viruses and other problems the body encounters.

• Insulin like growth factors - these are chemicals produced by tissues and the liver in response to growth hormone in the body. They help tell the cells its time to grow.

• Intermittent - on and off. Many hormones are released on and off during the day in response to stimuli.

• Intestinal telangiectasia - collection of small blood vessels in the lining of the intestinal tract

• IUGR - Intrauterine Growth Retardation, Subnormal fetal growth

• Karyotype - chromosome composition of an individual

• Ketones - Ketone Bodies (commonly refered to as "ketones") are chemicals that the body makes when there is not enough insulin in the blood. Ketone bodies can poison and even kill body cells. When the body does not have enough insulin, the ketones build up in the blood and then "spill" over into the urine so that the body can get rid of them. The body can also rid itself of one type of ketone, called acetone, through the lungs. This gives the breath a fruity odor. Ketones that build up in the body for a long time lead to serious illness and coma. (source:American Diabetes Association). To check Ketones excess, you can purchase a bottle of ketoacidosis sticks (little cardboard like pieces) at most pharmacies-it is an urinalysis "stream" test. No prescription is required to purchase these test strips. Follow the directions on the bottle to see and understand the levels.

• Late-onset (non-classical) CAH - the mildest form of congenital adrenal hyperplasia (see CAH Brochure # 2 & 3 sections).

• Lipid metabolism - process by which the body digests and uses fats. Many systems are involved such as the intestines, the pancreas, the lymph system and blood systems.

• Limbic system - is a brain system. It handles emotional responses and consequently emotional reactions. It is associated with behavior. This system includes many parts such as the thalamus, hypothalamus, amygdala, and parts of the reticular formation, brainstem and cerebral cortex.

• Masculinizing – assuming characteristics associated with male gender

• Metabolism - the use of calories and oxygen to produce energy

• Microhnathia - small lower jaw (chin-mandible)

• Mineral content - determination of mineral content of bones. Many minerals absorbed by bones are required for healthy life. These include iron, magnesium, potassium and sodium.

• Mosaic (karyotype) - two or more cell lines with differing chromosomal patterns (numbers)

• Neonatology – the area of medicine regarding newborn infants

• Nephrectomy - surgical removal of a kidney.

• Nephrotic Syndrome - a collection of symptoms that indicate kidney damage. Symptoms include high levels of protein in the urine, lack of protein in the blood, and high blood cholesterol.

• Nocturnal intermittent peritoneal dialysis (NIPD) - a machine-aided form of peritoneal dialysis. NIPD differs from CCPD in that six or more exchanges take place during the night, and the NIPD patient does not perform an exchange during the day.

• Nystagmus - is a constant and involantarily rapid movement of the eyes

• Optic nerves - the nerve that connects the eye to the brain

• Ovaries – the ovaries – one on each side of the body –contain the sex cells called eggs or ova

• Ovulation – the release of an egg from an ovary

• Percentile - A number based on dividing something into 100 parts, a group of children of the same age. The centile number tells what percentage of children that same age are taller or shorter than the child being measured. (Also see centile).

• Peritoneal dialysis - cleaning the blood by using the lining of the belly (abdomen) as a filter. A cleansing solution, called dialysate, is drained from a bag into the belly. Fluids and wastes flow through the lining of the belly and remain "trapped" in the dialysate. The dialysate is then drained from the belly, removing the extra fluids and wastes from the body.
  
  There are three types of peritoneal dialysis:

  • Phenotype - refers to the physical characteristics and abnormalities found in a person that are attributable to a specific disorder (for example, the phenotype for Russell-Silver Syndrome might include large forehead, triangular-shaped face, and 5th finger abnormalities.)

  • Polyostotic - Poly means many. Polyostotic means involving many bones. For example, in McCune Albright Syndrome the person may have bad cells in only one bone (monostotic) or in more than one bone (polyostotic).

  • Postural hypotension - is a marked decrease in blood pressure upon assuming erect posture often causing light headedness and a faint feeling.

• Potassium - is an electrolyte. it is important for the maintenance of your heart beat and muscle. Bananas, peas and peaches are a few of the foods rich in potassium.

• Precocious – developed more than is natural or usual for a given age, exceeding what is expected of one’s years.

• Pre-natal diagnosis - before birth diagnosis of a disease (see CAH Brochure # 5 & 7 sections).

• Progesterone - Pro means to support something, and gestate means to carry a developing fetus (unborn baby) in the womb. Progesterone is a substance called a hormone that is made in the body and is needed for a woman to become and stay pregnant. If the woman’s body is not making enough of this hormone, the woman may also take progesterone that is prepared by drug companies. Progesterone also helps develop the mammary glands of the woman’s breast. The mammary glands are responsible for production of breast milk.

• Proteinuria - is the presence of protein in the urine, indicating that the kidneys are not working properly.

• Puberty – the period during which a child experiences physical, hormonal and sexual changes and becomes capable of reproduction. Ages vary as to when a child enters into puberty and completes this process. However, early puberty should be evaluated quickly by a medical professional.

• Rapid bone maturation – when the bone age (skeletal advancement) occurs at an increased/ fast rate.

• Renal - of the kidneys. A renal disease is a disease of the kidneys. Renal failure means the kidneys have stopped working properly.

• Salt-wasting CAH - the most severe form of congenital adrenal hyperplasia (see CAH Brochure #1, 2 & 3 sections).

• Screening - this means to medically test/check a certain aspect of the body.

• Secreting - means to make (and generate) a substance from cells or bodily fluids: the thyroid gland secretes the thyroid hormones.

• Secretion - release of chemicals into blood stream or other body areas.

• Septo - refers to the Septum Pellucidum, a membrane that separates the right and left sides of the brain.

• Sexual infantilism - absence of primary and secondary pubescent characteristics

• Stimulation testing - this is a blood test, taken over a period of time. It provides information about how much growth hormone a person’s body makes.

• Strabismus - is when a person's eyes are cross-eyed or one eye points outward. The eyes are not lined up together at the same point.

• Syndrome - this is a word used to describe a group of medical characteristics. When these characteristics are common among patients, they essentially lump all of the problems into one word- a syndrome. For example, people with XYZ Syndrome (not a real name) would all have the same or very similar basic medical problems.

• Synthetic analog - synthetic is something that is produced artificially rather than naturally. An analog is something that appears to be like something else but is not necessarily the same. An example of a synthetic analog could be a hormone produced by a drug company that is very similar to the hormone produced naturally in the body. But, this artificially produced hormone does not act on the body in the same way as the one made in the human body.

• Testosterone - a substance called a sex hormone that is made in the body. Testosterone is responsible for the production of body characteristics of the male (such as the beard, pubic hair, and deeper voice). This substance is also needed for normal growth and development of the man’s sex organs, sperm, and also for growth.

• Thyroid gland - the thyroid gland is a two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin. This gland regulates growth and development. It sort of serves as the body's barometer.

• Traits - refers to the physical characteristics (such as a triangular-shaped face) or functional abnormalities (such as delayed gastric emptying) that appear more often in a child with the specific disorder than in a child in the general population.

• Transient - passing with time; Transient Congenital Hypothyroidism is hypothyroidism that is present at birth but potentially “goes away’ within 12 to 18 months after birth.

• Uterus – the reproductive organ of a female in which the fetus develops before birth. It is made of stretchy muscles and is the size of a small pear.

• Vasopressin - also called an anti-diuretic hormone- is a hormone secreted by the hypothalamus. It is stored in the pituitary gland. It effects the kidneys resorption of water, and abnormal levels can cause a build up of urine.

• Visual acuity - is a term for how clearly a person sees.

• Webbing - redundant skin in the posterior neck region leading to a "wing or fan-like" appearance